ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.784G>C (p.Glu262Gln)

gnomAD frequency: 0.00009  dbSNP: rs149038104
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001346969 SCV001541207 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2023-07-17 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SDCCAG8 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 1042937). This variant has not been reported in the literature in individuals affected with SDCCAG8-related conditions. This variant is present in population databases (rs149038104, gnomAD 0.03%). This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 262 of the SDCCAG8 protein (p.Glu262Gln).
Fulgent Genetics, Fulgent Genetics RCV001346969 SCV002781896 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-03-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004531144 SCV004751879 uncertain significance SDCCAG8-related disorder 2023-12-07 criteria provided, single submitter clinical testing The SDCCAG8 c.784G>C variant is predicted to result in the amino acid substitution p.Glu262Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.025% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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